KCNQ1 Variant F485S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 F485S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

9%

0/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

F485S is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 0 individuals with LQT1 and 10 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-1.28 0.157 3 0.689 2

PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT1 Other Disease
Literature, cohort, and gnomAD – 1 1 0 –
Variant features alone – 15 10 0 –

Totals may differ from individual publications due to duplicate patients removed during curation.

Nearby variants

Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.

Previously observed variants near F485S.
Neighbour residue Distance (Å) Observed variants
485 0 F485S,
484 4
486 4 A486T,
483 5
487 5 E487K,
482 7 T482N, T482A, T482S, T482S,
488 7 D488E, D488E,
481 8
489 8
480 8 M480T,
490 8
479 9 F479L, F479L, F479L,
491 9
478 10 H478Y,
492 10 L492ins,
477 11 P477L, P477T,
493 11 G493A,
476 11 M476L, M476L, M476V,
494 11
475 12
495 12 T495S, T495S, T495A
474 13
496 13
473 13 E473Q,
497 13 L497P,
472 14 L472P,
498 14
471 14
499 14 P499S,
470 15
500 15 I500L, I500V,